Mutagenetix > Incidental Mutation

Incidental Mutation 'R6571:Spata31d1b'

526245

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1b

Ensembl Gene

ENSMUSG00000091311

Gene Name

spermatogenesis associated 31 subfamily D, member 1B

Synonyms

Gm4934, Fam75d1b

MMRRC Submission

044695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6571 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59860098-59867103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59865269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 806 (M806L)

Ref Sequence

ENSEMBL: ENSMUSP00000130813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165133]

AlphaFold

E9QA57

Predicted Effect

probably benign
Transcript: ENSMUST00000165133
AA Change: M806L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: M806L

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:DUF4599	65	149	3.9e-10	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	206	229	N/A	INTRINSIC
low complexity region	352	360	N/A	INTRINSIC
Pfam:FAM75	402	774	1.1e-116	PFAM
low complexity region	883	895	N/A	INTRINSIC
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1152	1162	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,216,390 (GRCm39)	I161V	possibly damaging	Het
Adamts12	T	C	15: 11,065,187 (GRCm39)	F24S	probably benign	Het
Bche	G	T	3: 73,608,824 (GRCm39)	Q201K	probably benign	Het
Camsap1	A	T	2: 25,829,512 (GRCm39)	D757E	possibly damaging	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Dab2ip	T	C	2: 35,602,902 (GRCm39)	S399P	probably damaging	Het
Fbxo40	A	T	16: 36,789,668 (GRCm39)	C481S	probably damaging	Het
Fn1	T	A	1: 71,665,349 (GRCm39)	T923S	probably damaging	Het
Gm11437	T	C	11: 84,047,038 (GRCm39)	D147G	probably benign	Het
Gm5592	A	G	7: 40,937,999 (GRCm39)	E427G	probably damaging	Het
Gm6401	T	A	14: 41,787,452 (GRCm39)	I125F	probably damaging	Het
Hmcn1	A	T	1: 150,491,189 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,426,839 (GRCm39)	M600T	probably damaging	Het
Itgb6	T	C	2: 60,458,800 (GRCm39)	E374G	probably damaging	Het
Lrba	A	C	3: 86,267,367 (GRCm39)	S1686R	probably damaging	Het
Map3k4	T	C	17: 12,461,579 (GRCm39)	D1200G	possibly damaging	Het
Mmp25	T	C	17: 23,858,870 (GRCm39)	H227R	probably benign	Het
Or6c38	A	C	10: 128,928,990 (GRCm39)	N284K	probably damaging	Het
Papss2	G	A	19: 32,629,342 (GRCm39)		probably null	Het
Rasal2	T	A	1: 156,988,749 (GRCm39)	R718S	possibly damaging	Het
Relch	A	G	1: 105,620,707 (GRCm39)	D394G	probably benign	Het
Rngtt	T	A	4: 33,379,413 (GRCm39)	D438E	probably damaging	Het
S1pr1	A	G	3: 115,505,452 (GRCm39)	S381P	possibly damaging	Het
Septin8	A	G	11: 53,427,990 (GRCm39)	E268G	probably damaging	Het
Slc6a21	A	G	7: 44,930,303 (GRCm39)	K234R	probably damaging	Het
Smg1	A	G	7: 117,783,737 (GRCm39)		probably benign	Het
Sntg1	T	C	1: 8,433,752 (GRCm39)		probably benign	Het
Spag5	G	T	11: 78,212,095 (GRCm39)	R1041I	probably damaging	Het
Tnfrsf18	T	A	4: 156,112,776 (GRCm39)	L154*	probably null	Het
Trib2	T	C	12: 15,844,060 (GRCm39)	E194G	probably damaging	Het
Vmn2r33	A	G	7: 7,566,668 (GRCm39)	V148A	probably benign	Het
Wiz	G	A	17: 32,578,298 (GRCm39)	R405W	probably damaging	Het
Zfp747l1	T	C	7: 126,984,310 (GRCm39)		probably benign	Het

Other mutations in Spata31d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Spata31d1b	APN	13	59,860,280 (GRCm39)	missense	probably benign	0.06
IGL02317:Spata31d1b	APN	13	59,865,854 (GRCm39)	missense	probably damaging	0.99
IGL02885:Spata31d1b	APN	13	59,866,941 (GRCm39)	utr 3 prime	probably benign
R0017:Spata31d1b	UTSW	13	59,863,883 (GRCm39)	missense	probably benign
R0071:Spata31d1b	UTSW	13	59,863,163 (GRCm39)	missense	probably benign	0.26
R0071:Spata31d1b	UTSW	13	59,863,163 (GRCm39)	missense	probably benign	0.26
R0595:Spata31d1b	UTSW	13	59,864,091 (GRCm39)	missense	probably benign	0.09
R0961:Spata31d1b	UTSW	13	59,865,618 (GRCm39)	missense	possibly damaging	0.91
R1054:Spata31d1b	UTSW	13	59,865,332 (GRCm39)	missense	probably damaging	0.96
R1124:Spata31d1b	UTSW	13	59,864,468 (GRCm39)	missense	probably benign
R1338:Spata31d1b	UTSW	13	59,865,975 (GRCm39)	frame shift	probably null
R1539:Spata31d1b	UTSW	13	59,863,733 (GRCm39)	missense	possibly damaging	0.46
R1662:Spata31d1b	UTSW	13	59,864,442 (GRCm39)	missense	probably benign	0.00
R1688:Spata31d1b	UTSW	13	59,863,274 (GRCm39)	missense	possibly damaging	0.61
R1776:Spata31d1b	UTSW	13	59,864,381 (GRCm39)	missense	probably benign
R1793:Spata31d1b	UTSW	13	59,863,779 (GRCm39)	missense	probably benign
R1838:Spata31d1b	UTSW	13	59,865,279 (GRCm39)	missense	probably benign	0.00
R1838:Spata31d1b	UTSW	13	59,863,671 (GRCm39)	missense	probably benign
R1861:Spata31d1b	UTSW	13	59,865,150 (GRCm39)	missense	possibly damaging	0.64
R1903:Spata31d1b	UTSW	13	59,865,882 (GRCm39)	missense	probably damaging	0.99
R1940:Spata31d1b	UTSW	13	59,865,835 (GRCm39)	missense	possibly damaging	0.91
R1994:Spata31d1b	UTSW	13	59,864,194 (GRCm39)	missense	probably benign
R1995:Spata31d1b	UTSW	13	59,864,194 (GRCm39)	missense	probably benign
R2407:Spata31d1b	UTSW	13	59,864,660 (GRCm39)	missense	possibly damaging	0.64
R3692:Spata31d1b	UTSW	13	59,865,705 (GRCm39)	missense	probably benign	0.03
R4576:Spata31d1b	UTSW	13	59,864,675 (GRCm39)	missense	probably damaging	0.98
R4734:Spata31d1b	UTSW	13	59,866,172 (GRCm39)	missense	probably damaging	1.00
R4742:Spata31d1b	UTSW	13	59,864,426 (GRCm39)	missense	probably damaging	0.98
R4749:Spata31d1b	UTSW	13	59,866,172 (GRCm39)	missense	probably damaging	1.00
R4806:Spata31d1b	UTSW	13	59,863,535 (GRCm39)	missense	probably benign	0.32
R4808:Spata31d1b	UTSW	13	59,863,535 (GRCm39)	missense	probably benign	0.32
R4844:Spata31d1b	UTSW	13	59,866,169 (GRCm39)	missense	possibly damaging	0.85
R4942:Spata31d1b	UTSW	13	59,864,917 (GRCm39)	missense	possibly damaging	0.70
R4953:Spata31d1b	UTSW	13	59,864,097 (GRCm39)	missense	probably damaging	0.96
R5093:Spata31d1b	UTSW	13	59,863,838 (GRCm39)	missense	possibly damaging	0.84
R5169:Spata31d1b	UTSW	13	59,864,309 (GRCm39)	missense	probably damaging	1.00
R5384:Spata31d1b	UTSW	13	59,866,032 (GRCm39)	missense	possibly damaging	0.68
R5386:Spata31d1b	UTSW	13	59,866,866 (GRCm39)	missense	possibly damaging	0.95
R5502:Spata31d1b	UTSW	13	59,864,486 (GRCm39)	missense	probably damaging	1.00
R5751:Spata31d1b	UTSW	13	59,866,787 (GRCm39)	missense	probably benign	0.03
R6054:Spata31d1b	UTSW	13	59,863,464 (GRCm39)	missense	probably benign
R6433:Spata31d1b	UTSW	13	59,864,999 (GRCm39)	missense	probably damaging	0.99
R6980:Spata31d1b	UTSW	13	59,863,236 (GRCm39)	missense	probably benign	0.26
R7047:Spata31d1b	UTSW	13	59,860,249 (GRCm39)	missense	probably damaging	1.00
R7064:Spata31d1b	UTSW	13	59,863,955 (GRCm39)	missense	probably benign
R7147:Spata31d1b	UTSW	13	59,866,028 (GRCm39)	missense	probably benign	0.28
R7273:Spata31d1b	UTSW	13	59,865,446 (GRCm39)	missense	probably benign
R7359:Spata31d1b	UTSW	13	59,860,304 (GRCm39)	missense	probably damaging	1.00
R7457:Spata31d1b	UTSW	13	59,864,723 (GRCm39)	missense	probably damaging	0.99
R7469:Spata31d1b	UTSW	13	59,863,278 (GRCm39)	missense	probably benign	0.04
R7519:Spata31d1b	UTSW	13	59,864,726 (GRCm39)	missense	probably benign	0.43
R7548:Spata31d1b	UTSW	13	59,864,468 (GRCm39)	missense	probably benign
R7586:Spata31d1b	UTSW	13	59,866,194 (GRCm39)	missense	probably damaging	1.00
R7657:Spata31d1b	UTSW	13	59,863,577 (GRCm39)	missense	possibly damaging	0.46
R7778:Spata31d1b	UTSW	13	59,865,047 (GRCm39)	missense	possibly damaging	0.65
R7824:Spata31d1b	UTSW	13	59,865,047 (GRCm39)	missense	possibly damaging	0.65
R7989:Spata31d1b	UTSW	13	59,866,182 (GRCm39)	missense	possibly damaging	0.94
R8078:Spata31d1b	UTSW	13	59,863,263 (GRCm39)	missense	probably damaging	0.99
R8176:Spata31d1b	UTSW	13	59,865,117 (GRCm39)	missense	probably benign
R8530:Spata31d1b	UTSW	13	59,864,964 (GRCm39)	missense	unknown
R8776:Spata31d1b	UTSW	13	59,863,283 (GRCm39)	missense	probably benign	0.00
R8776-TAIL:Spata31d1b	UTSW	13	59,863,283 (GRCm39)	missense	probably benign	0.00
R9385:Spata31d1b	UTSW	13	59,863,403 (GRCm39)	missense	probably damaging	0.99
R9476:Spata31d1b	UTSW	13	59,863,467 (GRCm39)	missense	probably benign	0.08
R9522:Spata31d1b	UTSW	13	59,864,780 (GRCm39)	missense	probably benign	0.00
R9786:Spata31d1b	UTSW	13	59,866,155 (GRCm39)	missense	possibly damaging	0.56
R9789:Spata31d1b	UTSW	13	59,860,196 (GRCm39)	missense	probably benign	0.03
Z1177:Spata31d1b	UTSW	13	59,866,674 (GRCm39)	missense	probably benign	0.17
Z1177:Spata31d1b	UTSW	13	59,863,265 (GRCm39)	missense	probably benign	0.44
Z1177:Spata31d1b	UTSW	13	59,860,223 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACAGGTGAAACAGTACCAG -3'
(R):5'- AGAAACGTTGTGGGCTTGAAC -3'

Sequencing Primer
(F):5'- TACCAGAGAGGAATTGAAAAAGCCC -3'
(R):5'- GCTTGAACGTGGAGCTGAG -3'

Posted On

2018-06-22